GALE V94M [cytosol]

Stable Identifier
R-HSA-5609999
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
UDP-galactose 4-epimerase apoenzyme, UDP-galactose 4-epimerase, UDP-glucose 4-epimerase, GALE_HUMAN, UDP-glucose 4-epimerase , Galactowaldenase, UDP- galactose 4-epimerase
Icon
GALE V94M [cytosol] icon
GALE V94M [cytosol] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:Q14376 GALE
Gene Names
GALE
Chain
chain:1-348
Reference Genes
BioGPS Gene:2582 GALE
COSMIC (genes):GALE GALE
CTD Gene:2582 GALE
dbSNP Gene:2582 GALE
ENSEMBL:ENSG00000117308 GALE
ENSEMBL_homo_sapiens_GENE:ENSG00000117308.15 GALE
HGNC:4116 GALE
KEGG Gene (Homo sapiens):2582 GALE
Monarch:2582 GALE
NCBI Gene:2582 GALE
OMIM:606953 GALE
UCSC:Q14376 GALE
Reference Transcript
Other Identifiers
11734086_a_at
11734087_x_at
11753268_a_at
11758531_x_at
16683397
202528_PM_at
202528_at
2401582
2401583
2401584
2401586
2401587
2401589
2401591
2401592
2401593
2401594
2401595
2401596
2401598
2401600
2401602
2401606
2401608
2582
31598_s_at
7913667
A_23_P160154
GE62206
GO:0003824
GO:0003974
GO:0003978
GO:0005829
GO:0005975
GO:0006012
GO:0016853
GO:0019388
GO:0033499
GO:0042802
GO:0042803
HMNXSV003020273
Hs2.397230.1.S1_3p_s_at
ILMN_1714157
ILMN_1777523
ILMN_1792168
L41668_rna1_at
PH_hs_0004388
TC01002350.hg
g9945333_3p_at
Participates
as a component of
Other forms of this molecule
GALE [cytosol]
Modified Residues
Name
L-valine 94 replaced with L-methionine
Coordinate
94
PsiMod
L-methionine residue [MOD:00022]
A protein modification that effectively converts a source amino acid residue to L-methionine.
L-valine removal [MOD:01650]
A protein modification that effectively removes or replaces an L-valine.
Disease
Name Identifier Synonyms
galactosemia DOID:9870 Galactose intolerance, Galactosaemia
Cross References
RefSeq
ZINC - World Drugs
OpenTargets
ZINC - Substances
ZINC target
PRO
PDB
IntEnz
GeneCards
HPA
Ensembl
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
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